Cystinosis

Important
It is possible that the main title of the report Cystinosis is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

Cystine Storage Disease
Fanconi II
Lignac-Fanconi Syndrome
nephropathic cystinosis
intermediate cystinosis
non-nephropathic cystinosis

Disorder Subdivisions

Infantile Cystinosis
Juvenile Cystinosis
Nephropathic Cystinosis
Nephrotic-Glycosuric-Dwarfism-Rickets-Hypophosphatemic Syndrome
de Toni-Fanconi Syndrome
Intermediate Cystinosis
Dwarfism with Rickets
Adolescent Cystinosis
Lignac-Debre-Fanconi Syndrome
Benign Cystinosis
Infantile Fanconi Syndrome with Cystinosis
Aminoaciduria-Osteomalacia-Hyperphosphaturia Syndrome
Abderhalden-Kaufmann-Lignac Syndrome
Adult Cystinosis
non-nephropathic cystinosis

General Discussion

Cystinosis is a rare genetic disorder characterized by the impaired transport of the amino acid cystine out of parts of cells called lysosomes in many organs of the body including the kidneys, eyes, liver, muscles, pancreas, brain and white blood cells. Lysosomes are membrane bound particles within cells that aid in the breakdown of cellular substances, some of which are harmful. Cystine crystallizes in these cells and slowly destroys the organs. Cystinosis is inherited as an autosomal recessive genetic condition

Resources

CLIMB (Children Living with Inherited Metabolic Diseases)
Climb Building
176 Nantwich Road
Crewe, Intl CW2 6BG
United Kingdom
Tel: +44 870 7700 325
Fax: +44 870 7700 327
Email: info@climb.org.uk
Internet: http://www.CLIMB.org.uk

Vaincre Les Maladies Lysosomales
2 ter avenue de Fance
Massy, 91300
France
Tel: 01 69 75 40 30
Fax: 01 60 11 15 83
Email: accueil@vml-asso.org
Internet: http://www.vml-asso.org

March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
Tel: (914)428-7100
Fax: (914)997-4763
Tel: (888)663-4637
Email: Askus@marchofdimes.com
Internet: http://www.marchofdimes.com

Cystinosis Foundation, Inc.
604 Vernon St
Oakland, CA 94610
Fax: (559)222-7997
Tel: (800)392-8458
Email: jean.cystinosis@sbcglobal.net
Internet: http://www.cystinosisfoundation.org

American Urological Association Foundation
1000 Corporate Blvd.
Linthicum, MD 21090
USA
Tel: (410)689-3700
Fax: (410)689-3800
Tel: (866)746-4282
Email: auafoundation@auafoundation.org
Internet: http://www.auafoundation.org

NIH/National Kidney and Urologic Diseases Information Clearinghouse
3 Information Way
Bethesda, MD 20892-3580
Tel: (800)891-5390
Email: nkudic@info.niddk.nih.gov
Internet: http://kidney.niddk.nih.gov/

Schneider, Jerry A., M.D.
University of California at San Diego
School of Medicine
Department of Pediatrics, 0609F
9500 Gilman Drive
La Jolla, CA 92093-0609
United States
Tel: (619)534-6988

Cystinosis Research Network
302 Whytegate Court
Lake Forest, IL 60045
USA
Tel: (847)735-0471
Fax: (847)276-3669
Tel: (866)276-3669
Email: info@cystinosis.org
Internet: http://www.cystinosis.org

MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
USA
Tel: (920)336-5333
Fax: (920)339-0995
Tel: (877)336-5333
Email: mums@netnet.net
Internet: http://www.netnet.net/mums/

Instituto de Errores Innatos del Metabolismo
Carrera 7 No 43-82
Bogota, Columbia
S.A. Edificio 53 Lab. 305A,
Tel: 50 1 3208320
Fax: 51 1 3384548
Email: abarrera@javeriana.edu.co
Internet: http://www.javeriana.edu.co

Hide & Seek Foundation for Lysosomal Disease Research
4123 Lankershim Blvd.
Suite 302
North Hollywood, CA 91602-2828
Tel: (818)762-8621
Fax: (818)762-2502
Email: info@hideandseek.org
Internet: http://www.hideandseek.org

Cystinosis Research Foundation
18802 Bardeen Ave
Irvine, CA 92612
Tel: (949)223-7610
Fax: (949)756-5955
Email: info@natialieswish.org
Internet: http://www.cystinosisresearch.org

For a Complete Report:

This is an abstract of a report from the National Organization for Rare Disorders, Inc. ® (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

Last Updated: 4/17/2007
Copyright 1986, 1987, 1988, 1990, 1991, 1993, 1994, 1995, 1997, 1998, 1999, 2007 National Organization for Rare Disorders, Inc.

WebMD Medical Reference from the National Organization of Rare Disorders

Last Updated: April 17, 2007

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